ArticleOrphanet journal of rare diseases2020
Effects of iron chelation therapy on the clinical course of aceruloplasminemia: an analysis of aggregated case reports.
Article in Orphanet journal of rare diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 33 citations in OpenAlex.
- Iron dyshomeostasis and its neurobiological mechanisms in psychiatric disorders.Molecular psychiatry · 2026Review
- Disorders Mimicking Wilson's Disease: Clinical, Biochemical, and Molecular Perspectives for Accurate Differential Diagnosis.Diagnostics (Basel, Switzerland) · 2026Review
- Functional characterisation of missense ceruloplasmin variants and real-world prevalence assessment of Aceruloplasminemia using population data.EBioMedicine · 2025Article
- Ceruloplasmin administration in the preclinical mouse model of aceruloplasminemia reveals a sex-related variation in biodistribution.Communications biology · 2025Article
- Iron and Liver Disease.Advances in experimental medicine and biology · 2025Review
- A Novel Mutation Related to Aceruloplasminemia with Mild Clinical Findings: A Case Report.Reports (MDPI) · 2024Article
- New orphan disease therapies from the proteome of industrial plasma processing waste- a treatment for aceruloplasminemia.Communications biology · 2024Article
- The Vital Role Played by Deferiprone in the Transition of Thalassaemia from a Fatal to a Chronic Disease and Challenges in Its Repurposing for Use in Non-Iron-Loaded Diseases.Pharmaceuticals (Basel, Switzerland) · 2023Review
- Perturbed iron biology in the prefrontal cortex of people with schizophrenia.Molecular psychiatry · 2023Article
- Deferiprone and Iron-Maltol: Forty Years since Their Discovery and Insights into Their Drug Design, Development, Clinical Use and Future Prospects.International journal of molecular sciences · 2023Review
- Cerebral Iron Deposition in Neurodegeneration.Biomolecules · 2022Review
- A New Pathogenic Missense Variant in a Consanguineous North-African Family Responsible for a Highly Variable Aceruloplasminemia Phenotype: A Case-Report.Frontiers in neuroscience · 2022Article
- RDmap: a map for exploring rare diseases.Orphanet journal of rare diseases · 2021Article
- Towards Precision Therapies for Inherited Disorders of Neurodegeneration with Brain Iron Accumulation.Tremor and other hyperkinetic movements (New York, N.Y.) · 2021Review
- Emerging Disease-Modifying Therapies in Neurodegeneration With Brain Iron Accumulation (NBIA) Disorders.Frontiers in neurology · 2021Review
- Three-year follow up of using combination therapy with fresh-frozen plasma and iron chelation in a patient with acaeruloplasminemia.JIMD reports · 2021Article
- Overdosing on iron: Elevated iron and degenerative brain disorders.Experimental biology and medicine (Maywood, N.J.) · 2020Review
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAceruloplasminemia is a rare genetic iron overload disorder, characterized by progressive neurological manifestations. The effects of iron chelation on neurological outcomes have only been described in case studies, and are inconsistent. Aggregated case reports were analyzed to help delineate the disease-modifying potential of treatment.
methodsData on clinical manifestations, treatment and neurological outcomes of treatment were collected from three neurologically symptomatic Dutch patients, who received deferiprone with phlebotomy as a new therapeutic approach, and combined with other published cases. Neurological outcomes of treatment were compared between patients starting treatment when neurologically symptomatic and patients without neurological manifestations.
resultsTherapeutic approaches for aceruloplasminemia have been described in 48 patients worldwide, including our three patients. Initiation of treatment in a presymptomatic stage of the disease delayed the estimated onset of neurological manifestations by 10 years (median age 61 years, SE 5.0 vs. median age 51 years, SE 0.6, p = 0.001). Although in 11/20 neurologically symptomatic patients neurological manifestations remained stable or improved during treatment, these patients were treated significantly shorter than patients who deteriorated neurologically (median 6 months vs. median 43 months, p = 0.016). Combined iron chelation therapy with deferiprone and phlebotomy for up to 34 months could be safely performed in our patients without symptomatic anemia (2/3), but did not prevent further neurological deterioration.
conclusionsEarly initiation of iron chelation therapy seems to postpone the onset of neurological manifestations in aceruloplasminemia. Publication bias and significant differences in duration of treatment should be considered when interpreting reported treatment outcomes in neurologically symptomatic patients. Based on theoretical grounds and the observed long-term safety and tolerability in our study, we recommend iron chelation therapy with deferiprone in combination with phlebotomy for aceruloplasminemia patients without symptomatic anemia.
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